title: Assignment of mouse Gfra1, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse chromosome 19.
abstract: Glial cell line-derived neurotrophic factor (Gdnf) and its alpha receptor (Gfra1) interact with the Ret receptor triggering its tyrosine kinase activity. As Gdnf and Ret have been linked to the development of Hirschsprung disease (HSCR), it seems likely that Gfra1 could also be a susceptibility gene for HSCR. A further HSCR candidate gene is represented by the human homologue of the Dom (Dominant megacolon) mouse mutation, mapped to Chr 15, for which the gene has not yet been identified. In order to test if Gfra1 could be the Dom gene or if it represents a new possible HSCR locus we have undertaken the mapping of the mouse Gfra1. Using specific PCR primers on a somatic cell hybrid mapping panel and fluorescence in situ hybridization with an expressed sequence tag (EST) cDNA clone corresponding to the mouse Gfra1, we mapped the gene to mouse chromosome 19D2-D3, a region with known homology with human chromosome 10q24-->q26.
authors.affiliation: Laboratory of Molecular Genetics, Gaslini Institute, Genova, Italy. genetica@unige.it
authors.forename: A
authors.initials: A
authors.lastname: Puliti
authors.forename: R
authors.initials: R
authors.lastname: Cinti
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D000818:Animals; D016466:CHO Cells; D002874:Chromosome Mapping; D006224:Cricetinae; D029721:Drosophila Proteins; D008040:Genetic Linkage; D051097:Glial Cell Line-Derived Neurotrophic Factor Receptors; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D016615:Telomere / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C494987:GFRA1 protein, human; C494988:Gfra1 protein, mouse; D051097:Glial Cell Line-Derived Neurotrophic Factor Receptors; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; C494999:Ret protein, mouse